Canonical Allele Identifier: CA71520873

Gene: TGFBR2

Linked Data

• dbSNP Id: rs933328147
• gnomAD v2: 3-30710266-A-AT
• gnomAD v3: 3-30668774-A-AT
• gnomAD v4: 3-30668774-A-AT
• MyVariant Identifiers: chr3:g.30710267_30710268insT (hg19) ; chr3:g.30710266_30710267insT (hg19) ; chr3:g.30668775_30668776insT (hg38) ; chr3:g.30668774_30668775insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30668784dup , CM000665.2:g.30668784dup	GRCh38
NC_000003.11:g.30710276dup , CM000665.1:g.30710276dup	GRCh37
NC_000003.10:g.30685280dup	NCBI36
NG_007490.1:g.67283dup , LRG_779:g.67283dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.455-2854dup MANE Select	ENSP00000295754.5:n.455-2854dup
ENST00000672866.1:n.2051-2854dup
ENST00000295754.9:c.455-2854dup	ENSP00000295754.5:n.455-2854dup
ENST00000359013.4:c.530-2854dup	ENSP00000351905.4:n.530-2854dup
NM_001024847.2:c.530-2854dup , LRG_779t1:c.530-2854dup	NP_001020018.1:n.530-2854dup
NM_003242.5:c.455-2854dup	NP_003233.4:n.455-2854dup
XM_011534043.1:c.482-2854dup	XP_011532345.1:n.482-2854dup
XM_011534044.1:c.407-2854dup	XP_011532346.1:n.407-2854dup
XM_011534045.1:c.350-2854dup	XP_011532347.1:n.350-2854dup
XM_011534043.2:c.482-2854dup	XP_011532345.1:n.482-2854dup
XM_011534045.3:c.350-2854dup	XP_011532347.1:n.350-2854dup
XM_017007106.1:c.350-2854dup	XP_016862595.1:n.350-2854dup
NM_003242.6:c.455-2854dup MANE Select	NP_003233.4:n.455-2854dup